Floating-Harbor Syndrome Overview
Learn About Floating-Harbor Syndrome
Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features. The condition is named for the hospitals where it was first described, the Boston Floating Hospital and Harbor General Hospital in Torrance, California.
Floating-Harbor syndrome is caused by mutations in the SRCAP gene. This gene provides instructions for making a protein called Snf2-related CREBBP activator protein, or SRCAP. SRCAP is one of several proteins that help activate a gene called CREBBP. The protein produced from the CREBBP gene plays a key role in regulating cell growth and division and is important for normal development.
Floating-Harbor syndrome is a rare disorder; only about 50 cases have been reported in the medical literature.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Didier Lacombe practices in Bordeaux, France. Mr. Lacombe is rated as an Elite expert by MediFind in the treatment of Floating-Harbor Syndrome. His top areas of expertise are Floating-Harbor Syndrome, Rubinstein-Taybi Syndrome, Kabuki Syndrome, Acromicric Dysplasia, and Kidney Transplant.
Kym Boycott practices in Ottawa, Canada. Ms. Boycott is rated as an Elite expert by MediFind in the treatment of Floating-Harbor Syndrome. Her top areas of expertise are Mckusick-Kaufman Syndrome, Floating-Harbor Syndrome, Achalasia Microcephaly Syndrome, Microcephaly, and Gastrostomy.
Rebecca Hood practices in Ottawa, Canada. Ms. Hood is rated as an Elite expert by MediFind in the treatment of Floating-Harbor Syndrome. Her top areas of expertise are Floating-Harbor Syndrome, Nicolaides-Baraitser Syndrome, Micrognathia, and CHARGE Syndrome.
Published Date: December 01, 2012
Published By: National Institutes of Health